{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA290797470",
  "communityStandardTitle": [
    "NM_025233.7(COASY):c.422dup (p.Tyr141Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1490236[alleleid]",
        "alleleId": 1490236,
        "preferredName": "NM_025233.7(COASY):c.422dup (p.Tyr141Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1418640",
        "RCV": [
          "RCV001931000"
        ],
        "variationId": 1418640
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.40715061_40715062insA?assembly=hg19",
        "id": "chr17:g.40715061_40715062insA"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42563043_42563044insA?assembly=hg38",
        "id": "chr17:g.42563043_42563044insA"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/562485309",
        "rs": 562485309
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-40715061-T-TA?dataset=gnomad_r2_1",
        "id": "17-40715061-T-TA",
        "variant": "17:40715061 T / TA"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42563043-T-TA?dataset=gnomad_r4",
        "id": "17-42563043-T-TA",
        "variant": "17:42563043 T / TA"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 42563044,
          "referenceAllele": "",
          "start": 42563044
        }
      ],
      "hgvs": [
        "NC_000017.11:g.42563044dup",
        "CM000679.2:g.42563044dup"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 40715062,
          "referenceAllele": "",
          "start": 40715062
        }
      ],
      "hgvs": [
        "NC_000017.10:g.40715062dup",
        "CM000679.1:g.40715062dup"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 37968588,
          "referenceAllele": "",
          "start": 37968588
        }
      ],
      "hgvs": [
        "NC_000017.9:g.37968588dup"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 985,
          "referenceAllele": "",
          "start": 985
        }
      ],
      "hgvs": [
        "NG_029442.1:g.985dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5971,
          "referenceAllele": "",
          "start": 5971
        }
      ],
      "hgvs": [
        "NG_034110.1:g.5971dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005746"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000393818.3:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377406.1:p.Tyr141Ter",
        "hgvsWellDefined": "ENSP00000377406.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753175",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.422dup"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.422dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Tyr141Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Tyr141Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 878,
          "referenceAllele": "",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000393818.2:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377406.1:p.Tyr141Ter",
        "hgvsWellDefined": "ENSP00000377406.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "referenceAllele": "",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000421097.6:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393564.2:p.Tyr141Ter",
        "hgvsWellDefined": "ENSP00000393564.2:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "referenceAllele": "",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000586771.1:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466838.1:p.Tyr141Ter",
        "hgvsWellDefined": "ENSP00000466838.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389625"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000587157.1:c.188dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467322.1:p.Tyr63Ter",
        "hgvsWellDefined": "ENSP00000467322.1:p.Tyr63_Leu92del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 519,
          "referenceAllele": "",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000587214.1:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468583.1:p.Tyr141Ter",
        "hgvsWellDefined": "ENSP00000468583.1:p.Tyr141Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 634,
          "referenceAllele": "",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000590958.5:c.509dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464814.1:p.Tyr170Ter",
        "hgvsWellDefined": "ENSP00000464814.1:p.Tyr170_Leu199del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 184,
          "referenceAllele": "",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "ENST00000591779.5:c.-464dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467687.1:n.-464dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393119"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411173",
      "coordinates": [
        {
          "allele": "A",
          "end": 579,
          "referenceAllele": "",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.2:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Tyr141Ter",
        "hgvsWellDefined": "NP_001035994.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573178964",
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.3:c.509dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Tyr170Ter",
        "hgvsWellDefined": "NP_001035997.2:p.Tyr170_Leu199del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032265",
      "coordinates": [
        {
          "allele": "A",
          "end": 971,
          "referenceAllele": "",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.6:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Tyr141Ter",
        "hgvsWellDefined": "NP_079509.5:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 601,
          "referenceAllele": "",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_006722116.2:c.509dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722179.1:p.Tyr170Ter",
        "hgvsWellDefined": "XP_006722179.1:p.Tyr170_Leu199del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 775,
          "referenceAllele": "",
          "start": 775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.1:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Tyr141Ter",
        "hgvsWellDefined": "XP_011523602.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "referenceAllele": "",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525301.1:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523603.1:p.Tyr141Ter",
        "hgvsWellDefined": "XP_011523603.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 915,
          "referenceAllele": "",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XR_429926.1:n.915dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_006722116.4:c.509dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722179.1:p.Tyr170Ter",
        "hgvsWellDefined": "XP_006722179.1:p.Tyr170_Leu199del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "referenceAllele": "",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "XM_011525300.2:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523602.1:p.Tyr141Ter",
        "hgvsWellDefined": "XP_011523602.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830032265",
      "coordinates": [
        {
          "allele": "A",
          "end": 897,
          "referenceAllele": "",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_025233.7:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_079509.5:p.Tyr141Ter",
        "hgvsWellDefined": "NP_079509.5:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670946",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393818.3:c.422dup"
          },
          "RefSeq": {
            "hgvs": "NM_025233.7:c.422dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000377406.1:p.Tyr141Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079509.5:p.Tyr141Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825411173",
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "referenceAllele": "",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042529.3:c.422dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035994.1:p.Tyr141Ter",
        "hgvsWellDefined": "NP_001035994.1:p.Tyr141_Leu170del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573178964",
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NM_001042532.4:c.509dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035997.2:p.Tyr170Ter",
        "hgvsWellDefined": "NP_001035997.2:p.Tyr170_Leu199del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676049"
    }
  ],
  "type": "nucleotide"
}